Your browser doesn't support javascript.
loading
Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy.
Lupo, Vincenzo; García-García, Francisco; Sancho, Paula; Tello, Cristina; García-Romero, Mar; Villarreal, Liliana; Alberti, Antonia; Sivera, Rafael; Dopazo, Joaquín; Pascual-Pascual, Samuel I; Márquez-Infante, Celedonio; Casasnovas, Carlos; Sevilla, Teresa; Espinós, Carmen.
Afiliação
  • Lupo V; Unit of Genetics and Genomics of Neuromuscular Disorders, Program in Rare and Genetic Diseases and IBV/CSIC Associated Unit, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain; Unit 732, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Valencia, Spain; Departmen
  • García-García F; Unit 715, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Valencia, Spain; Unit of Systems Biology, Program in Computational Genomics, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
  • Sancho P; Unit of Genetics and Genomics of Neuromuscular Disorders, Program in Rare and Genetic Diseases and IBV/CSIC Associated Unit, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain; Unit 732, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Valencia, Spain.
  • Tello C; Unit of Genetics and Genomics of Neuromuscular Disorders, Program in Rare and Genetic Diseases and IBV/CSIC Associated Unit, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
  • García-Romero M; Department of Neuropediatrics, Hospital Universitario La Paz, Madrid, Spain.
  • Villarreal L; Department of Neurology, Hospital Universitario Virgen del Rocío, Seville, Spain.
  • Alberti A; Department of Neurology, Hospital de Bellvitge, Barcelona, Spain.
  • Sivera R; Department of Neurology, Hospital Universitari i Politècnic La Fe and Instituto de Investigación Sanitario (IIS) - La Fe, Valencia, Spain.
  • Dopazo J; Unit 715, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Valencia, Spain; Unit of Systems Biology, Program in Computational Genomics, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain; Functional Genomics Node, Spanish National Institute of Bioinformatics (IN
  • Pascual-Pascual SI; Unit of Systems Biology, Program in Computational Genomics, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
  • Márquez-Infante C; Department of Neuropediatrics, Hospital Universitario La Paz, Madrid, Spain.
  • Casasnovas C; Department of Neurology, Hospital de Bellvitge, Barcelona, Spain.
  • Sevilla T; Department of Neurology, Hospital Universitari i Politècnic La Fe and Instituto de Investigación Sanitario (IIS) - La Fe, Valencia, Spain; Unit 763, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Valencia, Spain; Department of Medicine, Universitat de València, Valencia, S
  • Espinós C; Unit of Genetics and Genomics of Neuromuscular Disorders, Program in Rare and Genetic Diseases and IBV/CSIC Associated Unit, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain; Unit 732, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Valencia, Spain; Departmen
J Mol Diagn ; 18(2): 225-34, 2016 Mar.
Article em En | MEDLINE | ID: mdl-26752306
Assuntos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neuropatia Hereditária Motora e Sensorial / Doença de Charcot-Marie-Tooth / Sequenciamento de Nucleotídeos em Larga Escala Tipo de estudo: Diagnostic_studies / Observational_studies / Risk_factors_studies Limite: Female / Humans / Male Idioma: En Revista: J Mol Diagn Assunto da revista: BIOLOGIA MOLECULAR Ano de publicação: 2016 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neuropatia Hereditária Motora e Sensorial / Doença de Charcot-Marie-Tooth / Sequenciamento de Nucleotídeos em Larga Escala Tipo de estudo: Diagnostic_studies / Observational_studies / Risk_factors_studies Limite: Female / Humans / Male Idioma: En Revista: J Mol Diagn Assunto da revista: BIOLOGIA MOLECULAR Ano de publicação: 2016 Tipo de documento: Article